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Genes 2018, 9(9), 454;

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

Centro Nacional de Genética Médica, ANLIS, Ciudad Autónoma de Buenos Aires 1425, Argentina
Instituto de Biología y Medicina Experimental, CONICET, Ciudad Autónoma de Buenos Aires 1428, Argentina
Hospital El Cruce, Dr. Néstor Kirchner, Florencio Varela 1888, Provincia de Buenos Aires, Argentina
Departamento de Neonatología, Hospital Gandulfo, Lomas de Zamora 1832, Buenos Aires, Argentina
Servicio de Genética, Hospital Sor María Ludovica, La Plata 1904, Buenos Aires, Argentina
Hospital Dr. Arturo Oñativia, Salta 4400, Salta, Argentina
Hospital Pediátrico Dr. Avelino Castelán, Resistencia 3500, Chaco, Argentina
Servicio de Genética, Hospital Provincial Neuquén “Dr. Eduardo Castro Rendón”, Neuquén 8300, Argentina
Laboratorio Central de Redes y Programas -MSP, Corrientes 3400, Argentina
Hospital Materno Infantil Dr. Ramón Sardá, Ciudad Autónoma de Buenos Aires 1246, Argentina
Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires 1428, Argentina
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 29 June 2018 / Revised: 23 August 2018 / Accepted: 5 September 2018 / Published: 11 September 2018
(This article belongs to the Section Human Genomics and Genetic Diseases)
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Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10–30% of all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to the disease risk in patients with syndromic and/or non-syndromic forms. Although largely studied in several populations, their frequencies are barely reported for Latin American countries. The aim of this study was to analyze chromosomal abnormalities, 22q11 deletions, and other genomic imbalances in a group of Argentinean patients with CCHD of unknown etiology. A cohort of 219 patients with isolated CCHD or associated with other major anomalies were referred from different provinces of Argentina. Cytogenetic studies, Multiplex-Ligation-Probe-Amplification (MLPA) and fluorescent in situ hybridization (FISH) analysis were performed. No cytogenetic abnormalities were found. 22q11 deletion was found in 23.5% of the patients from our cohort, 66% only had CHD with no other major anomalies. None of the patients with transposition of the great vessels (TGV) carried the 22q11 deletion. Other 4 clinically relevant CNVs were also observed: a distal low copy repeat (LCR)D-E 22q11 duplication, and 17p13.3, 4q35 and TBX1 deletions. In summary, 25.8% of CCHD patients presented imbalances associated with the disease. View Full-Text
Keywords: conotruncal congenital heart defects; 22q11 deletion; copy number variations conotruncal congenital heart defects; 22q11 deletion; copy number variations

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Delea, M.; Espeche, L.D.; Bruque, C.D.; Bidondo, M.P.; Massara, L.S.; Oliveri, J.; Brun, P.; Cosentino, V.R.; Martinoli, C.; Tolaba, N.; Picon, C.; Ponce Zaldua, M.E.; Ávila, S.; Gutnisky, V.; Perez, M.; Furforo, L.; Buzzalino, N.D.; Liascovich, R.; Groisman, B.; Rittler, M.; Rozental, S.; Barbero, P.; Dain, L. Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects. Genes 2018, 9, 454.

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